Miles J H, Carpenter N J
University of Missouri Health Sciences Center, Department of Child Health, Columbia, MO 65212.
Am J Med Genet. 1991 Feb-Mar;38(2-3):215-23. doi: 10.1002/ajmg.1320380209.
We studied 10 members of a 4 generation Missouri kindred with a dominant mental retardation syndrome with increasing severity in males. The 21 year-old propositus presented with severe mental retardation, microcephaly, asymmetric face, exotropia, hypogonadism, joint hypermobility, rocker bottom feet, and 10 low digital arches. Two brothers and a male cousin had similar features. The mother, sister, niece, maternal aunt, female cousin, and grandmother were examined and each had 8 to 10 low digital arches. Five of the women had exotropia and one had pes cavus feet. Chromosome analysis for fragile X in multiple relatives was normal. To determine the likelihood that this was an X-linked syndrome. DNA from relatives was hybridized to probes which detect 13 different loci spanning the X-chromosome. A peak LOD score of 2.78 at theta equal to 0.0 was calculated for the syndrome locus and DXYS1 (pDP34). The more distal Xq loci showed increasing recombination with the syndrome locus. These results are consistent with location for this syndrome near Xq21.31, the chromosomal locus for DXYSI.
我们研究了一个密苏里州四代家族中的10名成员，该家族患有显性智力发育迟缓综合征，男性患者症状逐渐加重。21岁的先证者表现为严重智力发育迟缓、小头畸形、面部不对称、外斜视、性腺功能减退、关节活动过度、摇椅底足和10个低位指弓。两名兄弟和一名男性表亲有类似特征。对母亲、姐妹、侄女、姨妈、女性表亲和祖母进行了检查，她们每人都有8至10个低位指弓。其中5名女性有外斜视，1名有高弓足。对多名亲属进行的脆性X染色体分析正常。为了确定这是否为X连锁综合征，将亲属的DNA与检测跨越X染色体的13个不同位点的探针杂交。该综合征位点与DXYS1（pDP34）在θ等于0.0时的最高LOD值为2.78。Xq远端位点与该综合征位点的重组率逐渐增加。这些结果与该综合征位于Xq21.31附近一致，Xq21.31是DXYSI的染色体位点。
